Rare Disease Library

Late infantile CACH syndrome

Locked-in syndrome

Pseudocoma · LIS

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Mills syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

N syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: Isolated cloverleaf skull syndrome

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Pyknoachondrogenesis

Camera syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

SCALP syndrome

Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

W syndrome

Pallister-W syndrome

Wells syndrome

Eosinophilic cellulitis

X-linked intellectual disability, Cabezas type

Cabezas syndrome